OFC13
MCID: ORF029
MIFTS: 15

Orofacial Cleft 13 (OFC13)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 13

MalaCards integrated aliases for Orofacial Cleft 13:

Name: Orofacial Cleft 13 58 12 13 74
Ofc13 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
orofacial cleft 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080406
OMIM 58 613857
MedGen 43 C3151222
SNOMED-CT via HPO 70 253997002 263681008 32958008
UMLS 74 C3151222

Summaries for Orofacial Cleft 13

Disease Ontology : 12 An orofacial cleft characterized by autosomal doninant inhertitance that has material basis in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730.

MalaCards based summary : Orofacial Cleft 13, also known as ofc13, is related to orofacial cleft. An important gene associated with Orofacial Cleft 13 is OFC13 (Orofacial Cleft 13). Related phenotypes are malar flattening and micrognathia

Description from OMIM: 613857

Related Diseases for Orofacial Cleft 13

Diseases in the Orofacial Cleft family:

Orofacial Cleft 1 Orofacial Cleft 11
Orofacial Cleft 3 Orofacial Cleft 2
Orofacial Cleft 4 Orofacial Cleft 6
Orofacial Cleft 5 Orofacial Cleft 9
Orofacial Cleft 12 Orofacial Cleft 10
Orofacial Cleft 13 Orofacial Cleft 14
Orofacial Cleft 15 Orofacial Cleft 8

Diseases related to Orofacial Cleft 13 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 orofacial cleft 11.3

Symptoms & Phenotypes for Orofacial Cleft 13

Human phenotypes related to Orofacial Cleft 13:

33
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 very rare (1%) HP:0000272
2 micrognathia 33 very rare (1%) HP:0000347
3 retrognathia 33 very rare (1%) HP:0000278
4 cleft soft palate 33 very rare (1%) HP:0000185
5 oligodontia 33 HP:0000677

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
cleft lip and/or palate

Clinical features from OMIM:

613857

Drugs & Therapeutics for Orofacial Cleft 13

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 13

Genetic Tests for Orofacial Cleft 13

Anatomical Context for Orofacial Cleft 13

Publications for Orofacial Cleft 13

Variations for Orofacial Cleft 13

Expression for Orofacial Cleft 13

Search GEO for disease gene expression data for Orofacial Cleft 13.

Pathways for Orofacial Cleft 13

GO Terms for Orofacial Cleft 13

Sources for Orofacial Cleft 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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